G58S (p.Gly58Ser) variant of UMOD (Uromodulin)
G58S (p.Gly58Ser) in UMOD (Uromodulin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial juvenile hyperuricemic nephropathy type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G58S (p.Gly58Ser) variant details
- p.Gly58Ser
- rs748228253
- ClinGen CA7939483
- ClinVar RCV002289275
- ClinVar RCV006470448
- Conflicting interpretations
- not provided; Familial juvenile hyperuricemic nephropathy type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.69
- AlphaMissense 0.51
- MetaLR 0.91
- MetaSVM 0.99
- CADD 23.80
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial juvenile hyperuricemic nephropathy type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD. (PMID 20301530)